For this reason, children with chromosome14abnormalitiesareusuallyplaced inrehabilitation programs aimed at stimulatingthe ability to communicateby verbal languageor byalternative strategies, such as the useofcommunicative gesturesorAlternative Augmentative Communication.

Scientific studiespurposely focusedoncommunication and language skillsof childrenwith abnormalchromosome14 have yet to be conducted.This has led todifficulties, by doctors, psychologistsandspeech therapists, in designingprograms,which are specificallytargeted and effectivein improving communication skills

Objectiveof the Project

The first objectiveof this studywas toprovideadescription of characteristicsofcommunicative developmentof children withabnormalitiesinchromosome14, since thisaspecthas never beeninvestigatedthoroughlyin scientific literature.

The project was conducted in collaborationwith the Department ofPsychology of the Universityof Milano-Bicocca. The project leader was ProfessorLaura D'Odorico from 2010 to 2012and Dr.LauraZampinisince 2013.

14childrenwith abnormalchromosome14, aged from 2 to16 years were enrolled in this study Some of thesechildren were assessedrepeatedlyover timein order tomonitor developmentwithlongitudinal observationson a regular basis. Forlogistical reasons, this type ofassessmentwascarried out,forthe time being, onlyonchildrenresident inItaly, but theresearch protocolcan be sharedwithotherresearchersifinterested.

This study has enabled us to identify the communication phenotype of children with chromosome 14 abnormalities, emphasizing the highly individual variability, both in terms of verbal production and in terms of preverbal and gestural production. In addition, a positive correlation between the size of deletion on chromosome 14 and detected language difficulties was established. The evolutionary profile of children with the ring 14 and of those with deletions to chromosome 14 was found to be similar, although children with a greater number of associated pathologies (epilepsy, autistic traits) had a more impaired communicative development.

In general, evolution of communication skills in these children appeared to be very slow, with delayed acquisition of different development stages and the need for long periods to consolidate learning. A positive aspect, however, was given by the recognition of communicative behavior in all children observed during this study. This reveals the need to focus attention of researchers and clinicians on the micro-changes that occur over time.

The study resultswere shared with familiesthroughperiodic reportsin which research advances were communicated.

Threeresearch papers, one in anational magazineofdevelopmentalneuropsychiatry(Psichiatria dell’Infanzia e dell’Adolescenza) and twopublishedin an international journalspecializing in the developmentof languageinclinical populations(ClinicalLinguistics&Phonetics) were published. Anotherarticleis currently being drafted.

The main resultsof this study werediscussed at twoconferencesonpsychologyandneuropsychologyandanother one ondevelopmental disabilities.